Guidance

Inherited metabolic diseases: confirmed diagnosis template GP letter

Letter templates to GPs to confirm a child's diagnosis for an inherited metabolic disease.

• From: Public Health England
• Published: 1 January 2015
• Last updated: 21 August 2017 — See all updates

Documents

Confirmed diagnosis of glutaric aciduria type 1 (GA1): template GP letter

MS Word Document, 146 KB

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Confirmed diagnosis of homocystinuria (HCU): template GP letter

MS Word Document, 145 KB

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Confirmed diagnosis of isovaleric acidaemia (IVA): template GP letter

MS Word Document, 147 KB

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Confirmed diagnosis of isovaleric acidaemia (IVA) biochemically mild variant (932C>T): template GP letter

MS Word Document, 145 KB

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Confirmed diagnosis of Medium-Chain Acyl-CoA Deficiency (MCADD): template GP letter

MS Word Document, 146 KB

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Confirmed diagnosis of maple syrup urine disease (MSUD): template GP letter

MS Word Document, 144 KB

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Confirmed diagnosis of phenylketonuria (PKU): template GP letter

MS Word Document, 143 KB

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Details

These documents are for inherited metabolic disease specialist teams to confirm a child’s diagnosis for an inherited metabolic disease:

• maple syrup urine disease
• isovaleric acidaemia
• isolvaleric acidaemia biochemically mild variant
• glutaric aciduria type 1
• homocystinuria (pyridoxine unresponsive)

Published 1 January 2015

Last updated 21 August 2017 + show all updates

1. 21 August 2017

   Updated versions of letter templates added.

2. 1 January 2015

   First published.